FACTORS INFLUENCING PROGNOSIS OF PATIENTS WITH CYSTIC FIBROSIS

Abstract

Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasian populations. Diagnosis of cystic fibrosis is associated with marked lethality due to inherent progressive deterioration in lung function. On the other hand the vast majority of patients have pancreatic insufficiency that affects nutritional status, slowdowns growth velocity and contributes to the worsening of lung function. At present up to 1300 cystic fibrosis transmembrane conductance regulator gene mutations are described. In this article are discussed recently published data of long-term programs executable worldwide and designed for early diagnostics of cystic fibrosis. A matter of primary interest was prognostic effect of newborn screening and genotype analysis on long-term clinical outcomes and survival of patients with cystic fibrosis.